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Congenital Anomaly

Dr.K.Ashish

Introduction
• A study of congenital malformations in infants and stillborn babies is of paramount importance in reducing the number of perinatal death. • About 20% of deaths in the last trimester of gestation and 15% of those in the neonatal period are attributed to congenital malformations.

Terminology
•Congenital malformation •Major congenital malformation •Minor congenital malformation •Malformation syndrome •Deformation •Disruption •Dysplasias •Sequence •Association

4% .9% •Musculoskeletal 3.Incidence •3% of newborn children have major malformation.000 total births •Clubfoot without CNS anomalies 25.7% •PDA 16.8% • Anencephalus 3.5% •Congenital hydrocephalus without anencephalus 4.9% •VSD 10.1% •Spina bifida without anencephalus 5. •Approx.malformation •Malformation Frequency/10.9% •Cleft lip with or without cleft palate 9.freq of common cong.5% •Rectal and intestinal atresia 3.

Embryology .

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.Intrauterine development of human has 2 phases--I. Fetal period-Terminating at birth. 1st 9 weeks of pregnancy. Fetal period has greatly reduced susceptibility to teratogenic agents but susceptible to growth retardation. Between the 3rd and 9th weeks the embryo is extremely susceptible to teratogenesis and peak sensitivity during 4th and 5th weeks. II.

Teratogens and genetic defect may act at several steps involved in normal morphogenesis • Cell migration • Cell proliferation • Cellular interaction among tissue from different structures. . • Cell matrix association • Programmed Cell death (Apoptosis) • Hormonal influences and mechanical forces which effect morphogenegis.

Etiology •Gene Defect •Chromosomal Disorder •Environmental causes (Teratogenesis) •Multifactorial .

.Gene Defect • 7-8% are caused by mutant genes. • Achondroplasia. The responsible gene may be on autosome or on the X chromosome and the condition may be dominant or recessive. . Example• Hydrocephalus. • Cystic fibrosis. • Apert Disease.

Chromosomal Disorder • Either numerical or structural anomalies and are frequently associated with spontaneous abortion.18 • • Turner Syndrome Prader Willi Syndrome (50% have deletion of chromosome 15) .Trisomy 21.13. Example.

Intrauterine infections • Herpes –pregnancy loss. mental retardation .blindness.muscle atrophy.microcephaly. • Syphillis---Abnormal teeth and bones.limb reduction defects.mental retardation.hearing loss. . • Vericella---Skin scarring. • Cytomegalovirus-Growth and developmental retardation.ocular abnormalities.growth retardaion. mental retardation. • Toxoplasmosis—Hydrocephalus.

PS).• Rubella-Cataract.growth and developmental retardation.limb defect. • Hypertension—Intrauterine growth retardation. • Hypo/Hyperthyroidism—Goiter. Congenital heart defect.caudal deficiency. . • Phenyl ketonuria—pregnancy loss.microcephaly.microcephaly.Heart disease and Deafness..pregnancy loss.neural tube defect. mental retardation.Congenital heart defects (PDA.facial dysmorphism.

stippled epiphyses.Pregnancy loss. Dysmorphic facial features.CNS defects. • Trimethadione. growth and developmental retardation. Dysmorphic . • Aminopterin and methotrexate.ear anomalies. • Warfarin—Nasal hypoplasia.hypoplastic nails.low birth weight.Developmental retardation.hydrocephalus.Drugs and environmental causes • Thalidomide—Limb reduction defects. • Hydantoin—Dysmorphic facial features.

• Cocaine--pregnency loss.microcephaly. • Penicillamine—Cutis laxa. . growth retardation. • ACE inhibitors—Renal dysgenesis. • Androgens -masculinization of external femal genitalia.enamel hypoplasia. • Tetracycline—Stained teeth.placental abruption.goiter.•  Antithyroid drugs—hypothyroidism. • Carbamazepine—Neural tube defects.skull ossification defects.oligohydroamnios sequence.

microtia/anotia.small or absent thymus.skin discoloration. dysmorphic facial features.mental retardation.spasticity. • Lead-pregnancy loss.other CNS defects.CNS damage.• Lithium-Ebstein anomaly • Methylmercury-cerebral atrophy. . • Polychlorobiphenyls-low birth weight.conotruncal heart defects. • Valproic Acid-neural tube defects. • Isotretinoin-pregnency loss.hydrocephalus.

Multifactorial • Neural tube defects • Congenital heart defects • Cleft lip and cleft palate .

Antenatal diagnosis •History and counselling •USG Abdoman •Maternal Serum Study •Chorionic Villous Biopsy •Amniocentesis •Cordocentesis •Fetal echocardiography .

Indication for antenatal diagnosis •Maternal age ≥ 35 years: Trisomy 21. Haemoglobinopathies . eg.. 18. •History of recurrent miscarriage •Consanguinity (offspring of first cousins risk up to 6%) Structural/constitutional disorders. •One or both parents — carriers of sex-linked or autosomal traits. •Family history of neural tube defects •Previous baby born with neural-'tube defect • Previous child with chromosomal anomaly. 13 and 47XXX increase with age.

assist in counseling and help the couple to adjust to the problem and thereby to decrease the incidence of births of genetically defective babies .History and counselling •It is the screening procedure to identify pregnancies with greater risk for genetic abnormalities. Identification of the cases by: •Analysis of family and reproductive history •Birth of a congenitally malformed baby increases the chance of repetition to the extent of 6 folds in next pregnancy • It helps parents to make a unified decision regarding future management of pregnancy •It provides information.

. monosomy. •Increased nuchal translucency (soft tissue marker) at 10-14 weeks is associated with many chromosomal abnormalities (trisomy. •Detection rate is about 70-80% with a false positive rate of 56%.High resolution ultrasonography •Ultrasonographic examination of the fetus in the early (10-14 weeks) pregnancy can detect fetal anomalies. •Crown-Rump Length (CRL) smaller than the gestational age is associated with the risk of chromosomal anomalies (trisomy).).

Maternal serum level reaches a peak around 32 weeks.Maternal serum study Maternal serum alpha fetoprotein (MSAFP): AFP is a protein (Molecular weight 70. It is produced by yolk sac and fetal liver.000). . MSAFP level is elevated in a number of conditions: • Open neural tube defects (NTDs) • Multiple pregnancy • IUFD • Anterior abdominal wall defects • Renal anomalies. Highest level of AFP in fetal serum and amniotic fluid is reached around 13 weeks and thereafter it decreases.

•Cases with high values are considered for high resolution ultrasound imaging and/or amniocentesis. •Test is done between 15-18 weeks.Low levels are found in (a)Trisomies (Down's syndrome) (b) Gestational trophoblastic disease. Elevated MSAFP detects 85% of all neural tube defects. .

Performed at 15-18 weeks. 4. It is used for detection of Down's syndrome.It gives a risk ratio and for confirmation amniocentesis has to be done.In an affected pregnancy level of MSAFP and UE3 tend to be low while that of hCG is high. .Combined biochemical test which includes MSAFP. 3. 2.The result is considered to be screen positive if the risk ratio is 1:250 or greater.Triple test 1. hCG and UE3 (unconjugated oestriol).

. .PCR is helpful to derive DNA from any type of fetal cell. . granulocytes and nucleated red blood cells are studied. lymphocytes.Fetal trophoblasts.Fetal cell isolation from maternal blood genetic analysis -Fetal cells from maternal blood can be isolated for prenatal diagnosis during pregnancy.

80% open spina bifida Test sensitivity rate 65% 60% 70-80% False positive rate 3-5% 5% 5-6% .UE3(↓) hCG (↑) Down's Syndrome Anomaly to detect Open neural tube defects can detect 90% of anencephaly.UE3 (Triple test) Soft tissue marker (Nuchal translucency) 11-14 Nuchal thickness > 3 mm Down's Syndrome Turner's Syndrome Time (weeks) Observation 15-18 MSAFP (↑) 15-18 MSAFP(↓).Hcg.PRENATAL DIAGNOSIS : BIOCHEMICAL AND BIOPHYSICAL SCREENING TESTS MSAFP MSAFP.

•Diagnosis can be obtained by 24 hours •A few villi are collected from the chorion frondosum under ultrasonic guidance •Complications like fetal loss (1-2%). oromandibular limb deformities or vaginal bleeding are higher. .Chorionic villus sampling (CVS) •It is carried out transcervically between 10-12 weeks and transabdominally from 10 weeks to term.

. amniocentesis should be performed to confirm the diagnosis. -CVS when performed between 10 and 12 weeks of gestation are safe and accurate as that of amniocentesis.-False positive results (2-3%) are there due to placental mosaics and maternal cell contamination. -Limb Reduction Defects (LRD) is high when CVS was performed at less than 10 weeks of gestation. -Anti-D immunoglobulin 50 ug IM should be administered following the procedure to a Rh negative woman.

monosomy X (Turner's syndrome) and others. trisomy 21 (Down's syndrome). obtained by amniocentesis or trophoblasts cells from CVS or fetal blood cells obtained by cordocentesis are cultured and examined to make a diagnosis of chromosomal anomalies e. .g. • Cytogenetic analysis — The desquamated fetal cells in the amniotic fluid.Amniocentesis It is performed between 14 and 16 weeks under ultrasonographic guidance.The fetal cells obtained in this procedure are subjected for cytogenetic analysis.

The specific chromosomal region containing the mutated gene can be identified. DNA amplification is done by polymerase chain reaction (PCR). Taysachs disease) can be diagnosed using specific DNA probes. Early amniocentesis has been carried out at 12-14 weeks gestation .DNA analysis — Single gene disorders (cystic fibrosis.

immunologic. •PUBS can provide diagnostic samples for cytogenetic . . It has 1-2% risk for fetal loss along with complications that can lead to preterm delivery in another 5%. hematologic. or DNA studies •Also provide assess for treatment in utero.  Cordocentesis (Percutaneous umbilical blood sampling): •Is performed under ultrasonic guidance from the second trimester until term.

Risk of Cordocentesis •This invasive procedure may lead to abortion.M should be given to Rh negative. •Overall fetal loss is 1-4%: Anti-D immunoglobulin 50 ug I. preterm labour and intra uterine fetal death. . yet unimmunised woman.

1 . • Culture — 10-14 days.4% Highly accurate 2nd trimester — risky Very little Same as amniocentesis .5 -1% Highly accurate 2nd trimester — risky More traumatic. physically and psychologically. Transabdominal (early 12-14 10 weeks to term weeks) • Fetal fibroblasts Materials for study Trophoblast cells • Fluid for biochemical • study Culture 3-4 weeks Cordocentests 18-20 weeks Karyotype Result Direct preparation — 2448 hrs.2% Accurate. 2 .PRENATAL DIAGNOSIS : CVS. AMNIOCENTESIS AND CORDOCENTESIS Chorion villus Amniocentesis sampling 14-16 weeks Time Transcervical 10-12 weeks. may need amniocentesis for confirmation 1st trimester — safe • Fetal white blood cells (others—infection and biochemical study) • Culture 24-48 hours Fetal loss Accuracy Termination of pregnancy when indicated Maternal effects follow-ing termination of pregnancy 0.

Common indication for performing fetal echocardiography are 1. Irregular fetal heart rhythms . 3. Family history of congenital heart disease .Fetal Echocardiography The fetal echocardiography is an ultrasound study of fetal heart. This study is painless and posses no known risk to the mother and fetus. Suspected heart disease on obstetrical ultrasound. 2.

Antenatal Intervention 1.Pre-conceptional counseling 2.Termination of pregnancy .Folic acid supplementation 3.

Counseling is done for 1.Risk of the present pregnancy being affected by congenital anomalies. 2.Pre-conceptional counseling -It is necessary to counsel those couples where family history or previous obstetric history is suggestive of increase risk of congenital anomaly in present pregnancy. . chromosomal or structural defects. fetus would likely to carry i.e. Type of the congenital anomalies.

4 mg/day for all women of childbearing age or women planning pregnancies. and 4 mg/day for -Inadequate maternal folic acid intake is associated with women with a previous infant with a neural tube defect. intra-uterine growth retardation.Folic acid supplementation Folic acid supplementation of at least 0. while maternal folic acid supplementation is associated with a reduction in preterm deliveries and intrauterine growth retardation . placental abruption and infarction. preterm deliveries.

obstructive urinary tract anomalies. •Periconceptional maternal folic acid supplementation during critical periods of organ formation is associated with reduction in both the occurrence and recurrence of neural tube defects. congenital heart defects (particularly conotruncal heart defects). orofacial clefts and congenital hypertrophic pyloric stenosis .• Sufficient maternal folic acid intake has on the wellbeing of the embryo and fetus. limb deficiencies.

Social indications: "To prevent grave injury to the physical and mental health of the pregnant woman". 1. . Unplanned pregnancy. To save the life of the mother (Therapeutic or Medical termination): 2. Pregnancy by rape or unwanted pregnancy due to failure of any contraceptive device also falls in this category (20%).Termination of pregnancy Following are the indications for termination under the MTP Act.

3. a viral infection affecting in the first trimester. The indication is rare. Eugenic: If there is a "substantial risk of the child being born with serious physical and mental abnormalities so as to be handicapped in life". (iii) Rubella. is an indication for termination . chromosomal (Down syndrome) or genetic (Haemophilia) abnormalities of the fetus. (i) Structural (Anencephaly). (ii) When the fetus is likely to be deformed due to action of teratogenic drugs (warfarin) or radiation exposure (> 10 rads) in early pregnancy.

•The first open fetal surgical procedure was performed 20 years ago at the university of california. •In the case of fetal surgery.the pregnant mother undergoes significant surgical precedure for the potential benefit of the fetus without any direct health benefit to herself. .Intrauterine fetal surgical intervention •The decisions regarding treatment of the fetus are complicated by the potential for harm to the mother.

geneticists.radiologists and pediatric general surgeons. •Families who are candidates for fetal intervention at our program routinely meet with fetal treatment coordinators.obsttetrical nursing staff.A critical component to a successful fetal treatment program is a multidisciplanary approach.anesthesiologists. .•Fetal surgical procedures does not seem to have an adverse effect on furthur fertility.neonatolog ists.social workers.perinatalogists.

Fetoscopically guided (FETENDO) intervention 5. .Access to the Fetus Access to the fetus can be gained by one of three general methods 3.Directly visualized intervention via hysterotomy.US guided percutaneous intervention 4.

• Uterine anatomy/anomalies • The position of the fetus .three factors are of utmost importance: • The position of the placenta.With all three approaches.

. 3.narcoticts and paralytics are given directly to the fetus as an intramuscular injection.The left side of the table should be tilted downward to minimize pressure on the inferior vena cava by the gravid uterus.the mother is placed in either the supine position or in the lithotomy position. 2.For all fetal surgical procedures.1. In most cases that require fetal sedation.

4.Fetoscopy procedures require initial port site placement under US guidance. Fetendo can be performed either percutaneously or via a limited maternal laparotomy incision. 5.Most clinicians have used warmed isotonic crystalloid solutions or amniotic fluid,rather than gas. to create a clear visual field and space for intervention.

6.Open fetal surgical procedures are performed through a low transverse abdominal incision. 7.The placenta is identified with US and marked so it can be avoided. 8.If an open hysterotomy is used,specially designed uterine staples and back-biting uterine clamps are essential for controlling myometrial bleeding. 9.The fetus may be monitored with pulse oximetry. 10.Exposure of the fetus is limited to the appropiate body part.After repair of the defect ,the fetus is returned to the uterus and the hysterotomy is closed with continious sutures and fibrin glue.

ANOMALIES AMANABLE TO FETAL SURGERY • Post.urethral valve • Congenital Diaphragmatic Hernia • Fetal tumours Like Sacrococcygeal teratoma,etc • Meningomyelocoel

Inadequate membrane closure 3.Chorioamnionitis 4.Complications of antenatal surgery 1. .Membrane separation and 5.Bleeding and premature membrane rupture 2.Abnormal uterine contractions.

Post natal management (Resuscitation after birth in labour room) .

• • • • • • • Warm I.V fluid Vitamin K Oxygen Physical Stimulation Bag and mask ventilation Antibiotics .

mtracranial abnormalities.Postnatal evaluation • Clinical evaluation at birth — While gross palpable congenital malformations are easily evident at birth. concealed abnormalities of grave magnitude are more often missed unless conscious of their entity. ultrasonography is of help. Gross skeletal abnormalities can also be diagnosed. • Radiography — Gross skeletal abnormalities . imperforate anus and their extent. cardiac abnormalities. •  Ultrasonography — To detect the abnormalities in the gastrointestinal tract like oesophageal or duodenal atresia. • Magnetic resonance imaging: Information as with ultrasonography could be obtained.

Respiratory tract anomalies 5.Vascular anomalies .G.Musculoskeletal anomalies 7.CVS anomalies 6.CNS anomalies 3.Genitourinary anomalies 2.Common Congenital Anomalies 1.I anomalies 4.

urethral .• Genitourinary-Upper-PKD PUJ obst Lower-Hypospadias Epispadias Ectopia Vesicae Ambiguous genitalia Post.

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Chiari-malformation • III.Cong. Anencephaly • III. Microcephaly • II.Meningo-mylocoele • III.Arnold.Encephalocoele • II.Hydrocephalus • II.Macrocephaly .Neural tube defect • Non closure of Neural tube I.Meningocoele • Associated Anomalies • I.Post.rachischisis • II.Dandy-walker malformation • Faulty development • I.Cranium bifidum • IV.Spina bifida • Outward bulging of neural tube and covering membranes • I.

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pyloric stenosis • Ant.Omphelocele b.• G.Duplication c.Intestinal obstruction e.I anomalies a. Abdominal wall defect a.Gastroschisis .Anorectal malformation d.Cong.Atresia b.

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Respiratory tract anomalies1.CDH .chest wall deformities 2.Bronchopulmonary malformation (cystic adenoid malformation) 3.Cong.TOF 4.

Left to right shunt -ASD -VSD -PDA b. Obstuctive lesion . Right to left shunt -TOF -Tricuspid atresia -Ebstein anomaly c.Aortic stenosis -Coarctation of Aorta -Pulmonary stenosis .• CVS anomalies a.

Syndactyli 4.Telipes equino varus .Musculoskeletal Anomalies1.Amelia 2.Polydactyli 3.

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cavernous haemangiomas Lymphatic—Cystic Hygromas .• Vascular Anomalies---Arterial—capillary haemangiomas Venous--.

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anuria. duodenal and ileal atresia ) Gastroschiasis.pul.abd distention (tr 21.RD.airway obs.distress.cleft palate.apnea.BS in chest.unable to pass NG tube Micrognathia. Scaphoid Abd.Common life threatening congenital anomalies Name Choanal atresia Pierre robin syndrome Diaphragmatic hernia TOF Menifestatation Resp.meningomyelocele Polyhydroamnio.omphelocoele Renal agenesis.cystic fibrosis) (Volvulus. Intestinal obstruction Oligohydroamnios.Aspiration pneumonia. Polyhydroamnios.Billous vomiting.Ex salivation unable to pass NG tube Intestinal obstruction Polyhydroamnios.potter syndrome NTD-Anencephalus.pneumothorax Polyhydroamnios.decreased Fetal activity .elevated AFP.hypoplasia.

Twins .

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THANKS .